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G. Canu, A. Minucci, C. Zuppi, E. Capoluongo (2013)
Gilbert and Crigler Najjar syndromes: an update of the UDP-glucuronosyltransferase 1A1 (UGT1A1) gene mutation database.Blood cells, molecules & diseases, 50 4
T. Hall (1999)
BIOEDIT: A USER-FRIENDLY BIOLOGICAL SEQUENCE ALIGNMENT EDITOR AND ANALYSIS PROGRAM FOR WINDOWS 95/98/ NT
A. Minucci, P. Concolino, B. Giardina, C. Zuppi, E. Capoluongo (2010)
Rapid UGT1A1 (TA)(n) genotyping by high resolution melting curve analysis for Gilbert's syndrome diagnosis.Clinica chimica acta; international journal of clinical chemistry, 411 3-4
J. Ritter, Fan Chen, Y. Sheen, H. Tran, S. Kimura, M. Yeatman, I. Owens (1992)
A novel complex locus UGT1 encodes human bilirubin, phenol, and other UDP-glucuronosyltransferase isozymes with identical carboxyl termini.The Journal of biological chemistry, 267 5
Ajit Kadakol, S. Ghosh, B. Sappal, Girish Sharma, J. Chowdhury, N. Chowdhury (2000)
Genetic lesions of bilirubin uridine‐diphosphoglucuronate glucuronosyltransferase (UGT1A1) causing Crigler‐Najjar and Gilbert syndromes: Correlation of genotype to phenotypeHuman Mutation, 16
Q. Gong, J. Cho, Theresa Huang, Christine Potter, Nahid Gholami, N. Basu, S. Kubota, Sheryl Carvalho, Matthew Pennington, I. Owens, N. Popescu (2001)
Thirteen UDPglucuronosyltransferase genes are encoded at the human UGT1 gene complex locus.Pharmacogenetics, 11 4
Mark Bartlett, G. Gourley (2011)
Assessment of UGT polymorphisms and neonatal jaundice.Seminars in perinatology, 35 3
S. Kohli, R. Saxena, I. Verma (2010)
Novel human pathological mutations. Gene symbol: UGT1A1. Disease: Crigler-Najjar syndrome 1.Human genetics, 127 4
I. Arias (1962)
Chronic unconjugated hyperbilirubinemia without overt signs of hemolysis in adolescents and adults.The Journal of clinical investigation, 41
N. Moghrabi, D. Clarke, B. Burchell, M. Boxer (1993)
Cosegregation of intragenic markers with a novel mutation that causes Crigler-Najjar syndrome type I: implication in carrier detection and prenatal diagnosis.American journal of human genetics, 53 3
B. Burchell, C. Brierley, G. Monaghan, D. Clarke (1998)
The structure and function of the UDP-glucuronosyltransferase gene family.Advances in pharmacology, 42
Dong Li, S. Fournel‐Gigleux, L. Barré, G. Mulliert, P. Netter, J. Magdalou, M. Ouzzine (2007)
Identification of Aspartic Acid and Histidine Residues Mediating the Reaction Mechanism and the Substrate Specificity of the Human UDP-glucuronosyltransferases 1A*Journal of Biological Chemistry, 282
J. Seppen, P. Bosma, B. Goldhoorn, C. Bakker, J. Chowdhury, N. Chowdhury, P. Jansen, Oude Elferink (1994)
Discrimination between Crigler-Najjar type I and II by expression of mutant bilirubin uridine diphosphate-glucuronosyltransferase.The Journal of clinical investigation, 94 6
M. Kurkela, J. Garcı́a-Horsman, L. Luukkanen, Saila Mörsky, J. Taskinen, M. Baumann, R. Kostiainen, J. Hirvonen, M. Finel (2003)
Expression and Characterization of Recombinant Human UDP-glucuronosyltransferases (UGTs)The Journal of Biological Chemistry, 278
P. Bosma, J. Chowdhury, C. Bakker, S. Gantla, A. Boer, B. Oostra, D. Lindhout, G. Tytgat, P. Jansen, R. Elferink, N. Chowdhury (1995)
The genetic basis of the reduced expression of bilirubin UDP-glucuronosyltransferase 1 in Gilbert's syndrome.The New England journal of medicine, 333 18
J. Crigler, V. Najjar (1952)
Congenital familial nonhemolytic jaundice with kernicterus.Pediatrics, 10 2
Ching-Shan Huang, N. Tan, Sien‐Sing Yang, Yung‐Chan Sung, May-Jen Huang (2006)
Crigler-Najjar syndrome type 2.Journal of the Formosan Medical Association = Taiwan yi zhi, 105 11
M. Savino, M. Garrubba, L. Zelante, F. Aucella, C. Guida, S. Santini (2010)
Novel human pathological mutations. Gene symbol: UROD. Disease: porphyria, cutanea tarda.Human genetics, 127 4
I. Arias, L. Gartner, M. Cohen, J. Ben-Ezzer, A. Levi (1968)
Chronic nonhemolytic unconjugated hyperbilirubinemia with glucuronyl transferase deficiency: evidence for genetic heterogeneity.Transactions of the Association of American Physicians, 81
F. Ozcay, F. Alehan, Ş. Sevmiş, H. Karakayalı, G. Moray, A. Torgay, G. Arslan, M. Haberal (2009)
Living related liver transplantation in Crigler-Najjar syndrome type 1.Transplantation proceedings, 41 7
P. Tarantino, F. Annesi, V. Scornaienchi, F. Rocca, E. Marco, D. Civitelli, G. Provenzano, W. Sproviero, V. Greco, G. Annesi (2010)
Novel human pathological mutations. Gene symbol: PARK7. Disease: Parkinson disease.Human genetics, 127 4
Nils Peters, Martin Dichgans, S. Surendran, J. Argiles, F. López‐Soriano, S. Busquets, Klaus Dittmann, H. Rodemann, A. Sindrilaru, C. Sunderkötter, Hiroshi Watanabe, D. Roden, G. Feuerstein, Robert Ruffolo, R. Knöll, S. Sen‐Chowdhry, Deirdre Ward, W. McKenna, J. Mogensen, M. Nadkarni, F. Martin, Nicholas Jacques, Neil Hunter, Markus Böhm, T. Luger, Tilman Grune, Nicola Longo, C. Filippo, E. Schwarz, M. Pasquali, Elardus Erasmus, L. Mienie, M. Deschauer, Stephan Zierz, D. Loots, Lee Denson, Helen Su, Michael Lenardo, H. McDermid, G. Eisenhofer, O. Calle-Martín, N. Casamitjana, C. Woellner, Bodo Grimbacher, Detlef Schuppan, W. Lisch, Berthold Seitz, Andreas Janecke, Tommie McCarthy, Carina Wallgren-Pettersson, J. Haan, Michael Wunderlich, N. Revencu, M. Vikkula, Akira Honda, S. Lalani, John Belmont, J. Borissoff, H. Cate, Takatoshi Kasai, Daniel Markovich, M. Trauner, Carlo Selmi, M. Gershwin, M. Lyons, Kirk Maurer, Martin Carey, F. Lammert, T. Sauerbruch, Peter Jansen, Holger Sudhoff, S. Dahl, Detlev Ameis, Muhammad Faiyaz-Ul-Haque, Syed Zaidi, Caroline Silve, Piero Pavone, Rosario Trifiletti, Friedrich Asmus, P. Weckerle, G. Schwanitz, Barbara Busert, T. Thiagarajah, Walter Muir, B. Pickard, A. Cleare, H. Scharnagl, W. März, Ralf Kubitz, D. Häussinger, Norbert Schwenzer, Alexander Leung, W. Robson, Andrew Wong, Y. Güzelcan, Francesco Trotta, A. Monaco, R. Sauve, Todd Rozen, Gloria David, D. Zeldin, P. Rao, Anne Molloy, J. Scott, G. Somay, S. Meo, Joshua Fierer, Mark Berneburg, Thomas Schwarz, J. Schölmerich, Anne Lampe, K. Bushby, W. Speake, John Simpson, H. Uronis, G. Blobe, Diego Franco, A. Aránega, Eggert Stockfleth, I. Nindl, C. Hamel, F. Riepe, Erich Strauss, V. Oji, Heiko Traupe, Thomas Frieling, Andrea Cavani, G. Girolomoni, Randolf Brehler, O. Steinlein, J. Uriu-Adams, J. Deybach, Hervé Puy, Michael Ma, Patrick Ma, Alexander Leung, J. Wierzba, A. Selicorni, Y. Kodolitsch, Wulf Ito, N. Maulik, R. Voisard, Hiroki Teragawa, K. Chayama, Renzo Guerrini, Carla Marini, E. Parrini, Alexander Storch, Johannes Schwarz, Sonja Ständer, Kam-Iun Hon, C. Chu, Olaf Bodamer, S. Stöckler‐Ipsiroglu, Tatsuro Kondoh, O. Shimokawa, Naoki Harada, Hiroyuki Moriuchi, K. Schulmann, Christian Pox, W. Schmiegel, James Crowe, Nan Hatch, M. Bothwell, H. Willenberg, Stefan Bornstein, Z. Urban, F. Borgia, F. Guarneri, Mario Vaccaro, D. Metze, Karl Kunzelmann, Marcus Mall, Paul Choi, William Gahl, Thomas Knoll, Albrecht Hesse, M. Jaksch (2020)
Crigler-Najjar syndromeDefinitions
Ajit Kadakol, B. Sappal, S. Ghosh, Mark Lowenheim, A. Chowdhury, S. Chowdhury, A. Santra, I. Arias, J. Chowdhury, N. Chowdhury (2001)
Interaction of coding region mutations and the Gilbert-type promoter abnormality of the UGT1A1 gene causes moderate degrees of unconjugated hyperbilirubinaemia and may lead to neonatal kernicterusJournal of Medical Genetics, 38
M. Sampietro, Achille (1999)
Molecular pathology of Crigler-Najjar type I and II and Gilbert's syndromes.Haematologica, 84 2
P. Bosma, J. Seppen, B. Goldhoorn, C. Bakker, R. Elferink, J. Chowdhury, N. Chowdhury, N. Chowdhury, P. Jansen (1994)
Bilirubin UDP-glucuronosyltransferase 1 is the only relevant bilirubin glucuronidating isoform in man.The Journal of biological chemistry, 269 27
Two inherited unconjugated hyperbilirubinemias, Crigler–Najjar syndrome and Gilbert syndrome, arise due to deficiency of UGT1A1 enzyme activity. Crigler–Najjar syndrome type 1 (CN1) lies at the extreme severe end of the spectrum of UGT1A1 activity characterized by complete absence, followed by the less severe Crigler–Najjar syndrome type 2 (CN2). Gilbert syndrome is the mild form having only partial loss of UGT1A1 activity. The present study aimed to identify molecular genetic defects underlying unconjugated hyperbilirubinemias in children from six consanguineous Pakistani families. The patients were clinically diagnosed by exclusion of other unconjugated hyperbilirubinemias. Differential diagnosis of CN1 and CN2 was made on the basis of patient's response to phenobarbitone. The promoter region, coding exons, and adjacent splice sites of the UGT1A1 gene were PCR amplified from genomic DNA of all patients and their families, and were sequenced. DNA sequence analysis identified five different homozygous mutations: two novel missense mutations p.Y230C (proband A) and p.D36N (proband B), a 4‐bp insertion c.622–625dupCAGC/p.Q208QfsX50 (probands C and E), a nonsense mutation p.R341X (proband D), and a TA insertion A(TA)7TAA in the promoter region (proband F). The present study extends the spectrum of UGT1A1 gene mutations and may be helpful in the diagnosis of Crigler–Najjar syndrome and Gilbert syndrome.
Annals of Human Genetics – Wiley
Published: Jan 1, 2013
Keywords: ; ; ; ;
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